Results 181 to 190 of about 504,253 (264)

A cross-sectional study of the use of graduated compression stockings at two top end hospitals in Darwin, Australia. [PDF]

J Vasc Surg Venous Lymphat Disord
Byrnes JM, Commons RJ, Hamilton MJ, Bowden J, Ton T, Tole DT, Quader S, Wang Y, Vincent S, Jenkins L, Lu M, Wong J, Yun R, Sun J, Gordon A, McCallum GB.   +15 more
europepmc   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Intramuscular administration of influenza hemagglutinin in one hind leg elicits similar protective immune responses as administration in two hind legs. [PDF]

Virology
Uno N, Ross TM.
europepmc   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Acute Compartment Syndrome Following Repeated Calf Kicks in an Elite-Level Kickboxing Athlete: A Case Report of a Rare Non-Fracture-Related Complication. [PDF]

J Funct Morphol Kinesiol
Beca S, Fundu Ngoie Zola BM, Bundo KG, Delafontaine A, Cordemans V.   +4 more
europepmc   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Development of intraoperative fluoroscopic protocols to avoid rotational malalignment during nailing of femoral fractures: a step-by-step guideline using the lesser trochanter profile or true lateral view. [PDF]

Eur J Orthop Surg Traumatol
Vermue DJ, Bongers PJ, Ten Duis K, Doornberg JN, Jaarsma RL, El Moumni M, Bleeker NJ, Plomp RG, IJpma FFA, 3D Surgery Consortium..   +9 more
europepmc   +1 more source

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M. Berry‐Kravis, Marsha Mailick   +4 more
wiley   +1 more source

Spontaneous Leg Movements Measured by Wearable Sensors in Infancy Differentiate Later Risk for Cerebral Palsy. [PDF]

Pediatr Neurol
Pierce SR, Ghazi MA, Kolobe THA, Fagg AH, Skorup JC, Ruwaih NI, Jawad AF, Prosser LA, Smith BA.   +8 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source